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A 39-year-old woman diagnosed with persistent congenital tibial pseudoarthrosis until adulthood presented with a right leg angular deformity, associated pain, and significant limb length discrepancy. Over a 17-year period, the case was closely monitored and treated through excision of the pseudarthrosis, vascularised fibular graft with bone marrow-derived and cultured mesenchymal cells, combined with highly purified β-tricalcium phosphates, internal fixation, and the application of a ring Ilizarov fixator. The successful union of bones and correction of deformities was achieved through consideration of both mechanical and biological aspects.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12310351 | PMC |
http://dx.doi.org/10.53045/jprs.2024-0032 | DOI Listing |
Cureus
August 2025
Anesthesiology, Om Prakash (OP) Jindal Institute of Medical Sciences, Hisar, IND.
Congenital diaphragmatic hernia (CDH) is a serious congenital anomaly often associated with pulmonary hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Central vascular access such as umbilical arterial catheters (UACs) is routinely used in neonatal intensive care but is associated with the risk of vascular complications, including thromboembolic events. We present a case of preterm dichorionic diamniotic (DCDA) twins born at 34 weeks of gestation with antenatally diagnosed CDH.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong Province, China.
Rationale: Weaver syndrome is a rare congenital overgrowth disorder characterized by a wide spectrum of clinical manifestations that often overlap with other overgrowth syndromes. It is primarily caused by pathogenic variants in the Enhancer of Zeste Homolog 2 (EZH2) gene on chromosome 7q36.1.
View Article and Find Full Text PDFJACC Case Rep
September 2025
The Heart Centre for Children, Sydney Children's Hospitals Network, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. Electronic address:
Persistent fifth aortic arch is a rare congenital cardiac anomaly. We report the imaging findings of a subtype of persistent fifth aortic arch in an infant with tetralogy of Fallot and a right-sided aortic arch.
View Article and Find Full Text PDFCureus
September 2025
Department of Paediatric Histopathology, Alder Hey Children's Hospital, Liverpool, GBR.
Congenital heart disease (CHD) is the most common congenital anomaly. While surgical and interventional advancements have improved survival, the management of associated complications and comorbidities remains complex and would benefit from a personalised approach that more accurately predicts individualised risks and prognoses. Recently, next-generation sequencing has uncovered diverse genetic factors, including epigenetic modifications, somatic mosaicism and regulatory non-coding variants.
View Article and Find Full Text PDFJ Surg Case Rep
September 2025
Pediatric Surgery Department A, Children Hospital Bechir Hamza, 167, 9th of April Boulevard, Tunis, Tunisia.
We report a case of concurrent congenital diaphragmatic hernia (CDH) and Hirschsprung's disease (HD) in a neonate without syndromic features, representing one of fewer documented cases worldwide. The patient presented with classic CDH symptoms but developed persistent bowel obstruction post-repair, leading to delayed HD diagnosis 4 weeks later. This case highlights the diagnostic challenges in differentiating postoperative ileus from underlying HD in CDH patients.
View Article and Find Full Text PDF